Paediatric posterior reversible encephalopathy syndrome: a review of aetiologies, clinical and radiological spectrum, pathophysiology, diagnostic criteria and management
Aug 2026· International Journal of Contemporary Pediatrics· Vol 13, pp. 1870-1879· 0 citations· 27 references
TL;DR
Current evidence regarding diagnosis, typical and atypical radiological findings, aetiologies, tertiary-care experiences, pathophysiological mechanisms, emerging genetic associations, and an algorithmic approach to management are summarized.
Abstract
Posterior reversible encephalopathy syndrome (PRES) is a rare clinico-radiological syndrome postulated to be due to disturbed cerebral autoregulation characterized by acute onset seizures, altered sensorium, headache, visual disturbances, and typical neuroimaging findings of vasogenic oedema in parietooccipital white matter. Although originally described in adults, PRES is increasingly recognized in children, particularly in association with renal disease, hypertension, autoimmune disorders, malignancy, chemotherapy, transplantation, infections, and immune-mediated conditions. Paediatric PRES differs from adult PRES in having a higher frequency of atypical imaging findings involving brainstem, spinal cord, basal ganglia; and broader etiological diversity. Advances in neuroimaging, molecular biology, and endothelial dysfunction research have improved understanding of disease mechanisms. However, diagnostic criteria remain largely clinico-radiological. This review summarizes current evidence regarding diagnosis, typical and atypical radiological findings, aetiologies, tertiary-care experiences, pathophysiological mechanisms, emerging genetic associations, and an algorithmic approach to management.
This critical narrative review synthesises evidence on the clinical features, aetiologies, and therapeutic options for these syndromes, and evaluates the strength, consistency, and limitations of that evidence rather than cataloguing individual studies.
S. Bittmann, E. Luchter, Elena Moschüring-Alieva· Asian Journal of Pediatric R...· 0 citations
Marfan syndrome (MFS) is a connective tissue disorder classically associated with cardiovascular, musculoskeletal, and ocular manifestations. Neurological involvement is increasingly recognized and is most commonly related to spontaneous intracranial hypotension secondary to dural ectasia and cerebrospinal fluid (CSF) leakage. By contrast, idiopathic intracranial hypertension (IIH) is exceptionally rare in pediatric patients with MFS. We report the case of an 8-year-old girl with Marfan syndrome presenting with neck pain, diplopia, bilateral papilledema, and bilateral sixth cranial nerve palsy. Brain MRI demonstrated optic nerve tortuosity, distension of the perioptic subarachnoid spaces, and partial empty sella, while venous sinus thrombosis and spinal CSF leakage were excluded. Lumbar puncture confirmed markedly elevated CSF opening pressure (48 cmH2O), consistent with IIH. CSF and plasma neurofilament light chain levels were elevated, whereas anti-MOG antibodies and autoimmune investigations were negative. The patient showed rapid clinical improvement following therapeutic CSF drainage and acetazolamide treatment. To the best of our knowledge, this represents only the second report of pediatric IIH associated with Marfan syndrome. Our patient developed idiopathic intracranial hypertension, an uncommon neurological manifestation in this condition. Through this case, we aim to highlight the diagnostic challenges, discuss the possible pathophysiological mechanisms underlying this rare association and emphasize the importance of considering intracranial hypertension in the differential diagnosis of children with Marfan syndrome presenting with neuro-ophthalmological symptoms.
G. Sforza, Carmen Maritato, Gaia Anzini et al.· Life· 0 citations
Autoimmune encephalitis (AE) is an increasingly recognised cause of subacute encephalopathy, behavioural change, seizures, and movement disorders in children. The recognition of antibody-mediated syndromes—principally anti-N-methyl-D-aspartate receptor (anti-NMDAR) encephalitis—has transformed the field, and refined diagnostic criteria now allow earlier treatment initiation. However, diagnostic delay remains common in paediatric practice and contributes to long-term neurocognitive morbidity. We review the contemporary spectrum of paediatric autoimmune encephalitis, including anti-NMDAR encephalitis, MOG antibody-associated disease overlap syndromes, and seronegative AE phenotypes, with emphasis on early recognition, diagnostic algorithms, immunotherapy, and long-term outcomes. Anti-NMDAR encephalitis is the most frequent paediatric AE worldwide, characterised by behavioural change, language regression, seizures, dyskinesias, and autonomic instability; ovarian teratoma is uncommon in prepubertal children. MOG antibody-associated disease can present with encephalopathy, particularly in younger children, often with concurrent demyelinating features. Seronegative AE poses particular diagnostic challenges. Across cohorts, diagnostic delay is associated with worse outcomes, more relapses, and persistent cognitive, behavioural, and academic difficulties. Earlier recognition through clinician education, paediatric-specific diagnostic algorithms, and rapid antibody testing pathways is essential. Long-term neurocognitive surveillance and individualised rehabilitation are critical, even in children with apparently good motor recovery. Research priorities include validation of paediatric-specific diagnostic criteria, biomarker-guided immunotherapy escalation, and population-based cohorts capturing developmental trajectories.
Background:
Posterior Reversible Encephalopathy Syndrome (PRES) is an acute neurovascular syndrome characterized by vasogenic cerebral edema and heterogeneous neurological manifestations. Although most commonly associated with hypertensive disorders of pregnancy, PRES may also develop during the postpartum period, when persistent cerebrovascular vulnerability and atypical clinical presentations can delay diagnosis and increase the risk of severe maternal neurological complications.
Objective:
To critically review the evidence on postpartum PRES, focusing on its clinical presentation, pathophysiological mechanisms, diagnostic approach, neuroimaging characteristics, management strategies, and maternal outcomes, while examining the evolving concept of PRES as the cerebral manifestation of systemic maternal endotheliopathy.
Methods:
A critical narrative review was conducted through a structured literature search of the PubMed, Scopus, and Google Scholar databases. Case reports, case series, observational studies, neuroradiological investigations, and review articles addressing postpartum PRES were critically appraised and synthesized using a thematic approach.
Key findings:
Postpartum PRES is increasingly recognized as a heterogeneous neurovascular syndrome whose clinical spectrum extends beyond the classical triad of headache, seizures, and hypertension. Recognition of normotensive presentations, atypical neuroimaging patterns, and delayed postpartum onset has challenged the traditional view of PRES as a disorder driven exclusively by severe hypertension. Emerging evidence increasingly suggests that systemic endothelial injury, inflammatory activation, angiogenic imbalance, and impaired cerebral autoregulation may act synergistically in the pathogenesis of the syndrome. Magnetic resonance imaging is the diagnostic cornerstone, while early recognition, appropriate blood pressure control, magnesium sulfate administration when indicated, and multidisciplinary management are associated with favorable neurological outcomes.
Conclusion:
The available evidence suggests that postpartum PRES is more appropriately viewed as the cerebral manifestation of systemic endothelial dysfunction occurring within a uniquely vulnerable postpartum physiological environment rather than solely as a neurological complication of hypertensive pregnancy. This integrated perspective helps explain the clinical heterogeneity of the syndrome and underscores the importance of early diagnosis, continued postpartum surveillance, and timely intervention to optimize maternal outcomes.
Simona Lerario· Journal of Biomedical and Cl...· 0 citations
Introduction: Stiff-Person Syndrome (SPS) is a rare autoimmune neurological disorder characterized by progressive muscle rigidity and painful spasms, primarily affecting axial and proximal musculature. Its diagnosis can be challenging due to clinical overlap with other neurological conditions such as spasticity, dystonia, or functional movement disorders. The detection of antibodies against glutamic acid decarboxylase (anti-GAD) is a key biomarker that supports diagnosis. Methods: Two clinical cases of patients with manifestations consistent with classic SPS are described, and were evaluated in a specialized neurology service. Both patients underwent detailed clinical assessment, complementary studies, and serum testing for anti-GAD antibodies. Results: Both patients presented with progressive rigidity and fluctuating muscle spasms, predominantly involving axial musculature. After an extensive diagnostic workup, elevated anti-GAD antibody titers were documented in both cases, confirming the diagnosis of classic SPS. Treatment with medications enhancing GABAergic neurotransmission was associated with significant clinical improvement, evidenced by reduced rigidity and the decreased frequency of spasms. Conclusions: These cases highlight the importance of considering SPS in the differential diagnosis of progressive rigidity syndromes. Identification of anti-GAD antibodies is essential for diagnostic confirmation, and treatment that aims to enhance GABAergic neurotransmission can significantly improve symptoms and patient functionality.
M. Eraso, Angela Carolina-Rosero, Alma-Fuentes et al.· Neurology International· 0 citations
Myelin oligodendrocyte glycoprotein antibody-associated disease (MOGAD) is a rare autoimmune neurological condition characterized by clinical phenotypes that include acute disseminated encephalomyelitis, optic neuritis, and transverse myelitis. Neuroimaging features differ markedly between adults and children, and brain lesions are relatively uncommon in adult MOGAD patients. Atypical imaging patterns can complicate the differentiation of MOGAD from other diseases. We report a 21-year-old female presenting with dysarthria, gait deviation, blurred vision, and slow response. Brain MRI revealed multiple patchy, irregular T2-FLAIR hyperintense lesions involving the pons, midbrain, and strikingly symmetric bilateral thalami and basal ganglia. She had a history of chronic alcohol use and was initially misdiagnosed with Wernicke’s encephalopathy. No symptomatic improvement followed vitamin B1 supplementation. Serum and cerebrospinal fluid (CSF) analysis revealed low-positive myelin oligodendrocyte glycoprotein immunoglobulin G (MOG-IgG). After carefully excluding other differential diagnoses, a diagnosis of MOGAD was established. High-dose intravenous methylprednisolone followed by oral tapering resulted in significant clinical improvement, along with marked amelioration of MRI abnormalities. This case highlights an atypical adult MOGAD presentation with widespread brainstem to the basal ganglia and symmetric thalamic lesions. It underscores the importance of recognizing such imaging patterns to avoid misdiagnosis and prompt timely autoantibody testing and immunotherapy.
Yutan Wang, Zikai Xin, Ruijie Meng et al.· Frontiers in Human Neuroscie...· 0 citations